Table 4.
Endemic mycoses in CD40 ligand deficiency.
| Genetic defect | Endemic fungal pathogen | Gender/age, residence | Clinical manifestations | Other infections and comorbidities | Treatment and outcome | |
|---|---|---|---|---|---|---|
| Tu et al. (110) | Not stated | Histoplasma spp. | M/3 years, US | Disseminated histoplasmosis with esophageal ulcers and bone marrow involvement | Cyclical neutropenia and anemia | Not stated |
| Hostoffer et al. (111) | Not stated | Histoplasma capsulatum | M/19 years, US | Disseminated histoplasmosis with pulmonary infiltrates, pancytopenia and splenomegaly | Tongue and per-rectal ulcers | Treated with amphotericin B, recurrence due to poor compliance to itraconazole prophylaxis |
| Yilmaz et al. (112) | Not stated | Histoplasma spp. | M/5 years, Turkey | Facial lesions, cervical lymphadenopathy, bilateral pulmonary infiltration and bronchiectasis | Recurrent pulmonary infections | Treated with ketoconazole |
| Danielian et al. (113) | p.R11X | H. capsulatum | M/6 months, Argentina | Histoplasma lymphadenitis | PCP and parvovirus B19 infection, recurrent pneumonia, adenitis, anemia | Not stated |
| Dahl and Eggebeen (114) | Not stated | Histoplasma spp. | M/14 years, US | Disseminated histoplasmosis complicated by fungemia and macrophage activation syndrome | Recurrent sinopulmonary infections and neutropenia | Liposomal amphotericin B for 14 days followed by oral itraconazole; macrophage activation syndrome treated with steroid and anakinra with prompt improvement |
| Lovell et al. (86) | c.289-15T > A | Histoplasma spp. | M/6 years (patient 2) | Disseminated histoplasmosis with fever, hepatomegaly; Histoplasma identified from bone marrow biopsy | Recurrent otitis media, streptococcal pharyngitis | Amphotericin B, itraconazole; recurrence 2 years later with abdominal histoplasmosis |
| c.289-15T > A | Histoplasma spp. | M/4 years (patient 3) | Lymphadenitis | Recurrent otitis media, streptococcal pharyngitis, bronchitis | Amphotericin B, itraconazole | |
| Pedroza et al. (115) | c.233_234 delinsAA, p.S78* | H. capsulatum | M/2.5 years, Ecuador | Cutaneous histoplasmosis | Cryptosporidium parvum enteritis, oral candidiasis, pneumonia caused by Pseudomonas aeruginosa and Candida albicans | Amphotericin B for 4 weeks followed by itraconazole prophylaxis |
| Cabral-Marques et al. (116) | c.345_402del | Paracoccidioides brasiliensis | M/11 years, Sao Paulo, Brazil | Prolonged fever and cough, mediastinal lymphadenopathy, bone marrow hypoplasia and tuberculoid granuloma | PCP, recurrent otitis media, and sinopulmonary infections | Treated with 8 months of itraconazole and recovered |
| Kamchaisatian et al. (118) | Complex mutation in exon 5 | Talaromyces marneffei | M/14 months, Northeastern Thailand | Prolonged fever, cough, neck pain and bloody sputum; neck imaging showed prevertebral soft tissue swelling. Throat swab, sputum, blood and bone marrow cultures yielded T. marneffei | Recurrent pneumonia, oral ulcers, cyclical neutropenia | Treated with amphotericin B for 21 days, followed by itraconazole for 10–12 weeks |
| Not stated | T. marneffei | M/1 year, Northern Thailand | Fever, cough, dyspnea, lymphadenopathy and pleural effusion; lymph node biposy yielded T. marneffei | PCP | Treated with amphotericin B for 21 days, followed by itraconazole for 10–12 weeks | |
| Sripa et al. (119) | Not stated | T. marneffei | M/3 years, Thailand | Pneumonia, positive T. marneffei culture from tracheal aspirate | PCP, cyclical neutropenia | Treated with itraconazole with good response |
| Liu et al. (120) | g.IVS1-3T > G | T. marneffei | M/2 years, China | Disseminated T. marneffei infection with airway granuloma, hepatosplenomegaly and fungemia | BCG-itis, pneumonia | Died of multi-organ failure |
Location of residence is indicated wherever information is available.
PCP, Pneumocystis jiroveci pneumonia.